Scleroderma
What is Scleroderma?
Scleroderma is also known as systemic sclerosis. It is a rare autoimmune connective tissue disease affecting the skin and other organs of the body. An autoimmune disease means that the body’s immune system produces antibodies that attack its own tissue causing inflammation and other abnormalities in these tissues. In scleroderma, there is over production of collagen (basis of connective tissue disease) resulting in thickening and tightening of the skin and inflammation and scarring of other body parts. It can also result in disorders of the lungs, kidneys, heart, intestinal system and blood vessels depending on the extent of this disease involvement. There is still no cure for scleroderma but there are treatments available that improve quality of life of patient.
Scleroderma affect women more than men, occuring between the ages of 30 and 50. Twins and family members of those with scleroderma or other autoimmune connective tissue diseases may have a slightly higher risk of getting scleroderma. Children can also develop scleroderma, but the disease is different in children than in adults. It is not contagious.
Scleroderma is also known as systemic sclerosis. It is a rare autoimmune connective tissue disease affecting the skin and other organs of the body. An autoimmune disease means that the body’s immune system produces antibodies that attack its own tissue causing inflammation and other abnormalities in these tissues. In scleroderma, there is over production of collagen (basis of connective tissue disease) resulting in thickening and tightening of the skin and inflammation and scarring of other body parts. It can also result in disorders of the lungs, kidneys, heart, intestinal system and blood vessels depending on the extent of this disease involvement. There is still no cure for scleroderma but there are treatments available that improve quality of life of patient.
Scleroderma affect women more than men, occuring between the ages of 30 and 50. Twins and family members of those with scleroderma or other autoimmune connective tissue diseases may have a slightly higher risk of getting scleroderma. Children can also develop scleroderma, but the disease is different in children than in adults. It is not contagious.
What causes Scleroderma?
The exact cause of scleroderma is unknown. It is thought to be an autoimmune condition whereby the body to produce too much collagen (fibrous type of protein). Connective tissue forms the fibers that make up the framework that supports the body which are found under the skin and around the internal organs and blood vessels which help support muscles and bones. This will lead to a thickening, or fibrosis, and scarring of tissue. Genetic factors may play a role, and possibly environmental factors like exposure to certain types of pesticides, epoxy resins or solvents. But this has not been confirmed.
People with scleroderma often come from families in which another autoimmune disease exists.
The exact cause of scleroderma is unknown. It is thought to be an autoimmune condition whereby the body to produce too much collagen (fibrous type of protein). Connective tissue forms the fibers that make up the framework that supports the body which are found under the skin and around the internal organs and blood vessels which help support muscles and bones. This will lead to a thickening, or fibrosis, and scarring of tissue. Genetic factors may play a role, and possibly environmental factors like exposure to certain types of pesticides, epoxy resins or solvents. But this has not been confirmed.
People with scleroderma often come from families in which another autoimmune disease exists.
Two main types of scleroderma
Localized scleroderma usually affects only the skin and is the mildest form of scleroderma. It can spread to the muscles, joints and bones. It does not affect internal organs. Symptoms include discolored oval patches (lighter or darker in color with a purple border) on the skin (morphea); or streaks or bands of thick, hard skin on the arms and legs (linear scleroderma). When linear scleroderma occurs on the face and forehead, it is called en coup de sabre.
Systemic scleroderma is the most serious form of the disease which can affect the skin, muscles, joints, blood vessels, lungs, kidneys, heart and other organs. There are two major forms of systemic scleroderma: limited cutaneous systemic sclerosis (CREST syndrome) and diffuse cutaneous systemic scleroderma.
- Raynaud’s phenomenon: The first sign is often Raynaud's disease whereby the blood vessels narrow in the hands and feet, causing circulatory problems in the extremities. Patients may experience numbness, pain, and color changes in response to stress or cold.
- Esophageal disorders including GERD
- Sclerodactyly: thick skin on the fingers
- Telangiectasias: dilated blood vessels in the skin
This form of scleroderma is also associated with pulmonary hypertension. A blood test called centromere antibodies are frequently seen.
Localized scleroderma usually affects only the skin and is the mildest form of scleroderma. It can spread to the muscles, joints and bones. It does not affect internal organs. Symptoms include discolored oval patches (lighter or darker in color with a purple border) on the skin (morphea); or streaks or bands of thick, hard skin on the arms and legs (linear scleroderma). When linear scleroderma occurs on the face and forehead, it is called en coup de sabre.
Systemic scleroderma is the most serious form of the disease which can affect the skin, muscles, joints, blood vessels, lungs, kidneys, heart and other organs. There are two major forms of systemic scleroderma: limited cutaneous systemic sclerosis (CREST syndrome) and diffuse cutaneous systemic scleroderma.
- Limited cutaneous systemic sclerosis (CREST syndrome): skin thickening and tightness is typically limited to the fingers and toes.
- Raynaud’s phenomenon: The first sign is often Raynaud's disease whereby the blood vessels narrow in the hands and feet, causing circulatory problems in the extremities. Patients may experience numbness, pain, and color changes in response to stress or cold.
- Esophageal disorders including GERD
- Sclerodactyly: thick skin on the fingers
- Telangiectasias: dilated blood vessels in the skin
This form of scleroderma is also associated with pulmonary hypertension. A blood test called centromere antibodies are frequently seen.
- Diffuse cutaneous systemic scleroderma: skin thickening and tightness usually extends from the hands to above the wrists. It frequently involves internal organs, such as lungs, kidneys, or the gastrointestinal tract. As it involves more organs, patients with systemic types of scleroderma may experience weakness, fatigue, difficulty breathing, difficulty swallowing and weight loss.A number of newer antibodies are discovered to classify this form of scleroderma and the most common antibody is Scl-70.
Symptoms and complications of Schleroderma
Scleroderma's signs and symptoms vary, depending on which parts of your body are involved and the complications are:
Scleroderma's signs and symptoms vary, depending on which parts of your body are involved and the complications are:
- Skin: Most patients have hardening and tightening patches of skin. These patches may be shaped like oval shaped or straight lines, or may cover wide areas of the trunk and limbs. Skin can appear shiny because it's so tight, lighter or darker in color and movement of the affected area may be restricted due to the stiff tightening of skin. It may cause changes in appearance if it affects the facial skin.
- Fingers or toes: One of the earliest signs of scleroderma is Raynaud's diseases which is an exaggerated response to cold temperatures or emotional distress. It can cause numbness, pain, finger swelling, color changes (red, white and blue), skin ulcers and gangrene in the fingers or toes. It is as a result of narrowing of blood vessels that supply blood to the hand and feet.
- Telangiectasias: Enlarged red blood vessels on the hands, face and around nail beds
- Calcium deposits: in connective tissue
- Digestive system. In addition to acid reflux, heartburn, difficulty swallowing, bloat and constipation; some people may have problems absorbing nutrients if their intestinal muscles aren't moving food properly through the intestines. This will result in loss of weight.
- Heart: Scarring of heart tissue increases risk of abnormal heartbeats (arrhythmias), hypertension and congestive heart failure. It can also cause inflammation of the membranous sac surrounding the heart (pericarditis).
- Kidneys: resulting in elevated blood pressure and an increased level of protein in your urine (proteinuria). It can result in renal crisis and kidney failure.
- Lungs. Scarring of lung tissue (pulmonary fibrosis) can result in reduced lung function, shortness of breath and reduced tolerance for exercise. It can also cause high blood pressure in the arteries to your lungs (pulmonary hypertension).
- Joint pain
- Sexual dysfunction
- Hypothyroidism
Diagnosis of Scleroderma
Symptoms of scleroderma may be similar to those of other diseases thus diagnosis may sometimes be difficult. There is no specific blood test to confirm scleroderma, although numerous antibodies have been associated with this condition.
To make a diagnosis, a doctor will take a thorough medical history of associated symptoms, conduct a physical exam looking out for signs of scleroderma and order lab tests and radiological tests. CX-rays and computerized tomography (CT) scans are used to look at bone abnormalities. Thermography can detect differences in skin temperature between the lesion and normal tissue. Ultrasound and magnetic resonance imaging (MRI) can be done to assess soft tissue changes. Invasive tests like skin biopsy may also be done to confirm diagnosis.
Symptoms of scleroderma may be similar to those of other diseases thus diagnosis may sometimes be difficult. There is no specific blood test to confirm scleroderma, although numerous antibodies have been associated with this condition.
To make a diagnosis, a doctor will take a thorough medical history of associated symptoms, conduct a physical exam looking out for signs of scleroderma and order lab tests and radiological tests. CX-rays and computerized tomography (CT) scans are used to look at bone abnormalities. Thermography can detect differences in skin temperature between the lesion and normal tissue. Ultrasound and magnetic resonance imaging (MRI) can be done to assess soft tissue changes. Invasive tests like skin biopsy may also be done to confirm diagnosis.
Treatment of Scleroderma
There is currently no cure for scleroderma available thus there is no medication that can stop the overproduction of collagen. However, there are medications to control symptoms and to treat organ system complications so as to minimize damage, minimize disabilities and maintain functionality.
Localized scleroderma may resolve on its own.
Medications to relieve symptoms and target organ complications are:
Surgery
Only needed in extreme cases :
- Raynaud's disease with ulcers developing into gangrene in toes/fingers may require amputations
- Lung transplant in those with severe lung disease complicated with severe pulmonary hypertension.
There is currently no cure for scleroderma available thus there is no medication that can stop the overproduction of collagen. However, there are medications to control symptoms and to treat organ system complications so as to minimize damage, minimize disabilities and maintain functionality.
Localized scleroderma may resolve on its own.
Medications to relieve symptoms and target organ complications are:
- Raynaud's phenomenon: drugs such as calcium channel blockers or drugs called PDE-5 inhibitors (sildenafil & tadalafil helps to open up narrowed blood vessels and improve circulation. To prevent further damage, patient's should keep the whole body warm, especially the fingers and toes. It’s also important to protect fingertips and other skin areas from injury.
- Heartburn (Gatro-esophageal reflux disease): can be treated with antacid drugs like proton-pump inhibitors (omeprazole).
- Hypertension due to heart involvement or pulmonary hypertension: treated with blood pressure medications
- Interstitial lung disease: which causes scarring of the lung tissue. immune-supressant medications, such as cyclophosphamide and mycophenolate may help.
- Scleroderma kidney disease with hypertension: can be treated with angiotensin converting enzyme inhibitors (ACE inhibitors). These can often effectively control kidney damage if started early and use of these drugs has been a major advance for treating scleroderma.
- Muscle pain and weakness: anti-inflammatory drugs such as steroids, intravenous immunoglobin (IVIg), and/or immunosuppressive medications may help relieve symptoms. Physical and occupational therapy may be useful to maintain joint and skin flexibility. Early referral will help prevent the loss of joint motion and function.
Surgery
Only needed in extreme cases :
- Raynaud's disease with ulcers developing into gangrene in toes/fingers may require amputations
- Lung transplant in those with severe lung disease complicated with severe pulmonary hypertension.
Living with scleroderma
Patients should be referred to rheumatologists and other specialists should there be complications of other organs involved. Family and friends support are important for patients to overcome psychological barriers.
Lifestyle changes to cope with scleroderma include:
Patients should be referred to rheumatologists and other specialists should there be complications of other organs involved. Family and friends support are important for patients to overcome psychological barriers.
Lifestyle changes to cope with scleroderma include:
- Digestive disorder: eat smaller but more frequent meals to reduce impact of GERD. Diet modifications to aid those with swallowing issues. Avoid processed food.
- Skin care: to use moisturizer as barrier to protect the fingers and toes and also to reduce stiffness. To be careful when doing cutting, gardening, handicraft to avoid injuries to fingers.
- Keeping the body warm: especially in air-conditioned rooms and during winter. If necessary to wear gloves and soaks to avoid extreme temperature changes that may aggravate Raynaud's disease.
- Exercise and physiotherapy: to ease stiffness of joints, improve flexibilty and to strengthen muscles.
- Stop smoking: Nicotine causes blood vessels to contract, making Raynaud's disease worse.
- avoid caffeine, alcohol and recreational drugs
- Reduce stress by exercising, engaging in a hobby and get enough sleep